A Rare Case Of Glycogen Storage Disorder Type VI Due To Novel Homozygous PYGL Variant With Coexisting RPGRIP1-Related Leber Congenital Amaurosis: A Dual Monogenic Disorder In A Child.

Meda Maansi¹, Renuka Jadhav^2*, Bharathsimha Reddy³, Mourya Meda⁴

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ABSTRACT

INTRODUCTION: Glycogen storage disorder type VI is a disorder of glycogenolysis caused by deficiency of hepatic glycogen phosphorylase. The critical enzyme catalyzes the rate limiting step in glycogen degradation and deficiency of the enzyme in the untreated child is characterised by hepatomegaly, poor growth, ketotic hypoglycaemia & elevated hepatic transaminases, hyperlipidemia and low pre albumin level.

CASE REPORT: This case report describes a 3 year old female child presented with delayed achievement of milestones and abnormal eye movements. Clinical examination revealed hepatomegaly with failure to thrive with gross developmental delay with hypotonia. History of hypoglycaemia episodes present.

CONCLUSION: This case highlights the clinical severity and prognosis of Glycogen storage disorder type VI. The findings emphasise the need for evaluation in cases of hepatomegaly with poor growth velocity as well as the importance of early diagnosis and multidisciplinary planning. Genetic counselling is essential for families with a suspected or confirmed.

KEYWORDS: Dual Monogenic disorder, Glycogen storage disorder type VI, PYGL variant, RPGRIP1, Leber Congenital Amaurosis.

How to cite this article: Maansi M, Jadhav R, Reddy B, Meda M. A rare case of GLYCOGEN STORAGE DISORDER TYPE VI due to Novel homozygous PYGL variant with coexisting RPGRIP1-Related Leber Congenital Amaurosis: A Dual monogenic disorder in a child. Int J Drug Deliv Technol. 2026;16(12s): 457-459. DOI: 10.25258/ijddt.16.12s.55

Source of support: Nil.

Conflict of interest: None